LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.
Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, Beaulieu C, Huang L, Schwartzentruber J, Hawkins C, Harms MB, Dojeiji S, Zhang M; FORGE Canada Consortium; Majewski J, Bulman DE, Boycott KM, Dyment DA.
Chardon JW, et al.
Clin Genet. 2015 Dec;88(6):558-64. doi: 10.1111/cge.12561. Epub 2015 Feb 26.
Clin Genet. 2015.
PMID: 25589244
We present two adult siblings with childhood-onset of weakness progressing to a severe quadriparesis with the additional features of triangular tongues and biventricular cardiac dysfunction. Whole exome sequencing identified compound heterozygous missense mutations …
We present two adult siblings with childhood-onset of weakness progressing to a severe quadriparesis with the additional features of tria …